Table 1.
POSITIVE NBS FOR: | HIV NBS + (N=2371) | HIV NBS − (N=1,003,954) | P value |
---|---|---|---|
Any metabolic disorder | 53 (2.2%) | 11,949 (1.2%) | 2.5 × 10−5 |
Mitochondrial metabolic disorder* | 42 (1.8%) | 8118 (0.8%) | 5.0 × 10−6 |
Urea cycle disorder | 3 (0.1%) | 1310 (0.1%) | 0.99 |
Organic Acidemia | 14 (0.6%) | 1220 (0.1%) | 2.2 × 10−6 |
Fatty acid oxidation disorder† | 20 (1.0%) | 4130 (0.4%) | 0.001 |
MCADD/MADD | 5 (0.2%) | 923 (0.09%) | 0.07 |
CPT1/2 | 8 (0.3%) | 471 (0.05%) | 2.3 × 10−5 |
Carnitine deficiency | 9 (0.4%) | 1869 (0.2%) | 0.05 |
Amino acid disorder | 11 (0.5%) | 3831 (0.4%) | 0.5 |
PKU | 8 (0.3%) | 1027 (0.1%) | 0.004 |
MSUD | 1(0.04%) | 916 (0.09%) | 0.65 |
Tyrosinemia | 1(0.04%) | 497 (0.04%) | 0.76 |
Homocystinuria | 1(0.04%) | 900(0.03%) | 0.67 |
Includes Urea cycle disorders, Organic acidemias, Fatty acid oxidation disorders.
Two newborns were positive for both MCADD/MADD and CPT1/2. NBS, Newborn screen; MCADD, Medium chain acyl-CoA dehydrogenase deficiency; MADD, Multiple acyl-CoA dehydrogenase deficiency (Glutaric aciduria, type 2); CPT, Carntine palmitoyltransferase; PKU, Phenylketonuria; MSUD, maple syrup urine disease.